Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 18:23561461 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012419

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB 15121, NM_000271.3:c.530G>A

HGVS names

This variant has 4 HGVS names - Hide

18:g.23561461C>T
ENST00000269228.9:c.530G>A
ENSP00000269228.4:p.Cys177Tyr
ENST00000540608.5:n.444G>A

About this variant

This variant overlaps 3 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays